Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
3 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007.
Am J Hum Genet. 2023.
PMID: 37541188
Free PMC article.
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K.
Malcorps M, et al. Among authors: armirola ricaurte c.
Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0.
Orphanet J Rare Dis. 2022.
PMID: 36242072
Free PMC article.
Item in Clipboard
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A.
Armirola-Ricaurte C, et al.
Genet Med. 2024 Mar 6;26(6):101117. doi: 10.1016/j.gim.2024.101117. Online ahead of print.
Genet Med. 2024.
PMID: 38459834
Free article.
Item in Clipboard
Cite
Cite